Clinical Genomics Resource Incubator
0.1.0-ci-build - CI Build
Clinical Genomics Resource Incubator
0.1.0-ci-build - CI Build
Clinical Genomics Resource Incubator, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 0.1.0-ci-build built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/cg-incubator/ and changes regularly. See the Directory of published versions
| Page standards status: Draft | Maturity Level: 1 |
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"id" : "genomicstudy-methodtype",
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"lastUpdated" : "2022-08-16T16:49:24-05:00",
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"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: CodeSystem genomicstudy-methodtype</b></p><a name=\"genomicstudy-methodtype\"> </a><a name=\"hcgenomicstudy-methodtype\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\">Last updated: 2022-08-16 16:49:24-0500</p><p style=\"margin-bottom: 0px\">Profile: <a href=\"http://hl7.org/fhir/R5/shareablecodesystem.html\">Shareable CodeSystem</a></p></div><p>This case-sensitive code system <code>http://hl7.org/fhir/uv/cg-incubator/CodeSystem/genomicstudy-methodtype</code> defines the following codes:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td><td><b>Definition</b></td></tr><tr><td style=\"white-space:nowrap\">biochemical-genetics<a name=\"genomicstudy-methodtype-biochemical-genetics\"> </a></td><td>Biochemical Genetics</td><td>Analysis of biochemical compounds and pathways to detect genetic metabolic disorders.</td></tr><tr><td style=\"white-space:nowrap\">cytogenetics<a name=\"genomicstudy-methodtype-cytogenetics\"> </a></td><td>Cytogenetics</td><td>Study of chromosome structure and number using microscopy-based methods.</td></tr><tr><td style=\"white-space:nowrap\">molecular-genetics<a name=\"genomicstudy-methodtype-molecular-genetics\"> </a></td><td>Molecular Genetics</td><td>Analysis of DNA and genes using molecular techniques to identify variations and mutations.</td></tr><tr><td style=\"white-space:nowrap\">analyte<a name=\"genomicstudy-methodtype-analyte\"> </a></td><td>Analyte</td><td>Analysis of biological analytes to detect genetic disorders.</td></tr><tr><td style=\"white-space:nowrap\">chromosome-breakage-studies<a name=\"genomicstudy-methodtype-chromosome-breakage-studies\"> </a></td><td>Chromosome breakage studies</td><td>Tests to assess chromosome stability and fragility, often used to detect DNA repair disorders.</td></tr><tr><td style=\"white-space:nowrap\">deletion-duplication-analysis<a name=\"genomicstudy-methodtype-deletion-duplication-analysis\"> </a></td><td>Deletion/duplication analysis</td><td>Detection of deletions and duplications in DNA sequences.</td></tr><tr><td style=\"white-space:nowrap\">detection-of-homozygosity<a name=\"genomicstudy-methodtype-detection-of-homozygosity\"> </a></td><td>Detection of homozygosity</td><td>Identification of homozygous regions in the genome.</td></tr><tr><td style=\"white-space:nowrap\">enzyme-assay<a name=\"genomicstudy-methodtype-enzyme-assay\"> </a></td><td>Enzyme assay</td><td>Measurement of enzyme activity to detect genetic metabolic disorders.</td></tr><tr><td style=\"white-space:nowrap\">fish-interphase<a name=\"genomicstudy-methodtype-fish-interphase\"> </a></td><td>FISH-interphase</td><td>Fluorescence in situ hybridization performed during interphase of the cell cycle.</td></tr><tr><td style=\"white-space:nowrap\">fish-metaphase<a name=\"genomicstudy-methodtype-fish-metaphase\"> </a></td><td>FISH-metaphase</td><td>Fluorescence in situ hybridization performed during metaphase of the cell cycle.</td></tr><tr><td style=\"white-space:nowrap\">flow-cytometry<a name=\"genomicstudy-methodtype-flow-cytometry\"> </a></td><td>Flow cytometry</td><td>Analysis of cells using flow cytometry to assess genetic disorders.</td></tr><tr><td style=\"white-space:nowrap\">fish<a name=\"genomicstudy-methodtype-fish\"> </a></td><td>Fluorescence in situ hybridization (FISH)</td><td>Visualization of specific DNA sequences using fluorescent probes.</td></tr><tr><td style=\"white-space:nowrap\">immunohistochemistry<a name=\"genomicstudy-methodtype-immunohistochemistry\"> </a></td><td>Immunohistochemistry</td><td>Detection of antigens in tissue samples using antibodies.</td></tr><tr><td style=\"white-space:nowrap\">karyotyping<a name=\"genomicstudy-methodtype-karyotyping\"> </a></td><td>Karyotyping</td><td>Visual analysis of chromosome structure and number in metaphase cells.</td></tr><tr><td style=\"white-space:nowrap\">linkage-analysis<a name=\"genomicstudy-methodtype-linkage-analysis\"> </a></td><td>Linkage analysis</td><td>Analysis of genetic markers to identify disease-associated variants in families.</td></tr><tr><td style=\"white-space:nowrap\">methylation-analysis<a name=\"genomicstudy-methodtype-methylation-analysis\"> </a></td><td>Methylation analysis</td><td>Detection of DNA methylation patterns to assess epigenetic modifications.</td></tr><tr><td style=\"white-space:nowrap\">msi<a name=\"genomicstudy-methodtype-msi\"> </a></td><td>Microsatellite instability testing (MSI)</td><td>Detection of microsatellite instability to assess DNA mismatch repair function.</td></tr><tr><td style=\"white-space:nowrap\">m-fish<a name=\"genomicstudy-methodtype-m-fish\"> </a></td><td>Multicolor FISH (M-FISH)</td><td>Multiple fluorescent in situ hybridization using multiple probes and colors simultaneously.</td></tr><tr><td style=\"white-space:nowrap\">mutation-scanning-of-select-exons<a name=\"genomicstudy-methodtype-mutation-scanning-of-select-exons\"> </a></td><td>Mutation scanning of select exons</td><td>Screening for mutations in specific exons of targeted genes.</td></tr><tr><td style=\"white-space:nowrap\">mutation-scanning-of-the-entire-coding-region<a name=\"genomicstudy-methodtype-mutation-scanning-of-the-entire-coding-region\"> </a></td><td>Mutation scanning of the entire coding region</td><td>Comprehensive screening for mutations throughout the entire coding region of a gene.</td></tr><tr><td style=\"white-space:nowrap\">protein-analysis<a name=\"genomicstudy-methodtype-protein-analysis\"> </a></td><td>Protein analysis</td><td>Analysis of protein structure and function to detect genetic disorders affecting protein.</td></tr><tr><td style=\"white-space:nowrap\">protein-expression<a name=\"genomicstudy-methodtype-protein-expression\"> </a></td><td>Protein expression</td><td>Measurement of protein expression levels to assess genetic effects on protein production.</td></tr><tr><td style=\"white-space:nowrap\">rna-analysis<a name=\"genomicstudy-methodtype-rna-analysis\"> </a></td><td>RNA analysis</td><td>Analysis of RNA sequences and expression to detect genetic disorders.</td></tr><tr><td style=\"white-space:nowrap\">sequence-analysis-of-select-exons<a name=\"genomicstudy-methodtype-sequence-analysis-of-select-exons\"> </a></td><td>Sequence analysis of select exons</td><td>DNA sequencing of specific exons to identify mutations.</td></tr><tr><td style=\"white-space:nowrap\">sequence-analysis-of-the-entire-coding-region<a name=\"genomicstudy-methodtype-sequence-analysis-of-the-entire-coding-region\"> </a></td><td>Sequence analysis of the entire coding region</td><td>Comprehensive DNA sequencing of the entire coding region of a gene.</td></tr><tr><td style=\"white-space:nowrap\">sister-chromatid-exchange<a name=\"genomicstudy-methodtype-sister-chromatid-exchange\"> </a></td><td>Sister chromatid exchange</td><td>Assessment of sister chromatid exchange as an indicator of DNA damage and repair.</td></tr><tr><td style=\"white-space:nowrap\">targeted-variant-analysis<a name=\"genomicstudy-methodtype-targeted-variant-analysis\"> </a></td><td>Targeted variant analysis</td><td>Sequencing or genotyping of specific, pre-selected genetic variants.</td></tr><tr><td style=\"white-space:nowrap\">udp<a name=\"genomicstudy-methodtype-udp\"> </a></td><td>Uniparental disomy study (UPD)</td><td>Detection of regions where both chromosomes are inherited from a single parent.</td></tr><tr><td style=\"white-space:nowrap\">aspe<a name=\"genomicstudy-methodtype-aspe\"> </a></td><td>Allele-specific primer extension (ASPE)</td><td>Genotyping method using allele-specific primers to identify genetic variants.</td></tr><tr><td style=\"white-space:nowrap\">alternative-splicing-detection<a name=\"genomicstudy-methodtype-alternative-splicing-detection\"> </a></td><td>Alternative splicing detection</td><td>Detection and analysis of alternative splicing patterns in RNA.</td></tr><tr><td style=\"white-space:nowrap\">bi-directional-sanger-sequence-analysis<a name=\"genomicstudy-methodtype-bi-directional-sanger-sequence-analysis\"> </a></td><td>Bi-directional Sanger Sequence Analysis</td><td>DNA sequencing using Sanger method in both forward and reverse directions.</td></tr><tr><td style=\"white-space:nowrap\">c-banding<a name=\"genomicstudy-methodtype-c-banding\"> </a></td><td>C-banding</td><td>Chromosome banding technique visualizing constitutive heterochromatin.</td></tr><tr><td style=\"white-space:nowrap\">cia<a name=\"genomicstudy-methodtype-cia\"> </a></td><td>Chemiluminescent Immunoassay (CIA)</td><td>Immunoassay detecting antigens using chemiluminescent reaction.</td></tr><tr><td style=\"white-space:nowrap\">chromatin-immunoprecipitation-on-chip<a name=\"genomicstudy-methodtype-chromatin-immunoprecipitation-on-chip\"> </a></td><td>Chromatin Immunoprecipitation on ChIP</td><td>ChIP-on-chip analysis combining chromatin immunoprecipitation with microarray.</td></tr><tr><td style=\"white-space:nowrap\">comparative-genomic-hybridization<a name=\"genomicstudy-methodtype-comparative-genomic-hybridization\"> </a></td><td>Comparative Genomic Hybridization</td><td>Detection of copy number variations by comparison of test and control DNA.</td></tr><tr><td style=\"white-space:nowrap\">damid<a name=\"genomicstudy-methodtype-damid\"> </a></td><td>DamID</td><td>DNA Adenine Methyltransferase Identification for mapping protein-DNA interactions.</td></tr><tr><td style=\"white-space:nowrap\">digital-virtual-karyotyping<a name=\"genomicstudy-methodtype-digital-virtual-karyotyping\"> </a></td><td>Digital / Virtual karyotyping</td><td>Computer-based analysis of chromosome patterns and abnormalities.</td></tr><tr><td style=\"white-space:nowrap\">digital-microfluidic-microspheres<a name=\"genomicstudy-methodtype-digital-microfluidic-microspheres\"> </a></td><td>Digital microfluidic microspheres</td><td>Microfluidic technology using digital control for genetic analysis.</td></tr><tr><td style=\"white-space:nowrap\">enzymatic-levels<a name=\"genomicstudy-methodtype-enzymatic-levels\"> </a></td><td>Enzymatic levels</td><td>Measurement of enzyme levels in biological samples.</td></tr><tr><td style=\"white-space:nowrap\">enzyme-activity<a name=\"genomicstudy-methodtype-enzyme-activity\"> </a></td><td>Enzyme activity</td><td>Measurement of enzyme activity levels in biological samples.</td></tr><tr><td style=\"white-space:nowrap\">elisa<a name=\"genomicstudy-methodtype-elisa\"> </a></td><td>Enzyme-Linked Immunosorbent Assays (ELISA)</td><td>Immunoassay for detecting antigens using enzyme-linked antibodies.</td></tr><tr><td style=\"white-space:nowrap\">fluorometry<a name=\"genomicstudy-methodtype-fluorometry\"> </a></td><td>Fluorometry</td><td>Measurement of fluorescence intensity to quantify biological molecules.</td></tr><tr><td style=\"white-space:nowrap\">fusion-genes-microarrays<a name=\"genomicstudy-methodtype-fusion-genes-microarrays\"> </a></td><td>Fusion genes microarrays</td><td>Microarray-based detection of gene fusion events.</td></tr><tr><td style=\"white-space:nowrap\">g-banding<a name=\"genomicstudy-methodtype-g-banding\"> </a></td><td>G-banding</td><td>Giemsa staining chromosome banding technique visualizing chromosome structure.</td></tr><tr><td style=\"white-space:nowrap\">gc-ms<a name=\"genomicstudy-methodtype-gc-ms\"> </a></td><td>Gas chromatography mass spectrometry (GC-MS)</td><td>Technique combining gas chromatography with mass spectrometry for chemical compound separation and identification.</td></tr><tr><td style=\"white-space:nowrap\">gene-expression-profiling<a name=\"genomicstudy-methodtype-gene-expression-profiling\"> </a></td><td>Gene expression profiling</td><td>Analysis of gene expression patterns using various molecular techniques.</td></tr><tr><td style=\"white-space:nowrap\">gene-id<a name=\"genomicstudy-methodtype-gene-id\"> </a></td><td>GeneID</td><td>Identification of genes through sequence comparison or database lookup.</td></tr><tr><td style=\"white-space:nowrap\">gold-nanoparticle-probe-technology<a name=\"genomicstudy-methodtype-gold-nanoparticle-probe-technology\"> </a></td><td>Gold nanoparticle probe technology</td><td>Molecular detection technique using gold nanoparticles as probes.</td></tr><tr><td style=\"white-space:nowrap\">hplc<a name=\"genomicstudy-methodtype-hplc\"> </a></td><td>High-performance liquid chromatography (HPLC)</td><td>Separation and analysis technique using high-pressure liquid chromatography.</td></tr><tr><td style=\"white-space:nowrap\">lc-ms<a name=\"genomicstudy-methodtype-lc-ms\"> </a></td><td>Liquid chromatography mass spectrometry (LC-MS)</td><td>Combined technique using liquid chromatography followed by mass spectrometry.</td></tr><tr><td style=\"white-space:nowrap\">lc-ms-ms<a name=\"genomicstudy-methodtype-lc-ms-ms\"> </a></td><td>Liquid chromatography-tandem mass spectrometry (LC-MS/MS)</td><td>Laboratory technique using liquid chromatography with tandem mass spectrometry.</td></tr><tr><td style=\"white-space:nowrap\">metabolite-levels<a name=\"genomicstudy-methodtype-metabolite-levels\"> </a></td><td>Metabolite levels</td><td>Measurement of metabolite concentrations in biological samples.</td></tr><tr><td style=\"white-space:nowrap\">methylation-specific-pcr<a name=\"genomicstudy-methodtype-methylation-specific-pcr\"> </a></td><td>Methylation-specific PCR</td><td>PCR-based technique detecting DNA methylation patterns at specific loci.</td></tr><tr><td style=\"white-space:nowrap\">microarray<a name=\"genomicstudy-methodtype-microarray\"> </a></td><td>Microarray</td><td>Molecular technique using arrays of probes to detect DNA sequences or expression levels.</td></tr><tr><td style=\"white-space:nowrap\">mlpa<a name=\"genomicstudy-methodtype-mlpa\"> </a></td><td>Multiplex Ligation-dependent Probe Amplification (MLPA)</td><td>Technique for detecting copy number variations and point mutations.</td></tr><tr><td style=\"white-space:nowrap\">ngs-mps<a name=\"genomicstudy-methodtype-ngs-mps\"> </a></td><td>Next-Generation (NGS)/Massively parallel sequencing (MPS)</td><td>High-throughput sequencing technology for analyzing genetic variation.</td></tr><tr><td style=\"white-space:nowrap\">ola<a name=\"genomicstudy-methodtype-ola\"> </a></td><td>Oligonucleotide Ligation Assay (OLA)</td><td>DNA sequence detection method using complementary oligonucleotide ligation.</td></tr><tr><td style=\"white-space:nowrap\">oligonucleotide-hybridization-based-dna-sequencing<a name=\"genomicstudy-methodtype-oligonucleotide-hybridization-based-dna-sequencing\"> </a></td><td>Oligonucleotide hybridization-based DNA sequencing</td><td>DNA sequencing using hybridization with oligonucleotide probes.</td></tr><tr><td style=\"white-space:nowrap\">other<a name=\"genomicstudy-methodtype-other\"> </a></td><td>Other</td><td>Other genetic testing method not listed in this code system.</td></tr><tr><td style=\"white-space:nowrap\">pcr<a name=\"genomicstudy-methodtype-pcr\"> </a></td><td>PCR</td><td>Polymerase Chain Reaction for amplifying and detecting DNA sequences.</td></tr><tr><td style=\"white-space:nowrap\">pcr-with-allele-specific-hybridization<a name=\"genomicstudy-methodtype-pcr-with-allele-specific-hybridization\"> </a></td><td>PCR with allele specific hybridization</td><td>PCR technique combined with allele-specific probe hybridization for variant detection.</td></tr><tr><td style=\"white-space:nowrap\">pcr-rflp-with-southern-hybridization<a name=\"genomicstudy-methodtype-pcr-rflp-with-southern-hybridization\"> </a></td><td>PCR-RFLP with Southern hybridization</td><td>Combination of PCR-RFLP and Southern blot analysis for genetic variation detection.</td></tr><tr><td style=\"white-space:nowrap\">protein-truncation-test<a name=\"genomicstudy-methodtype-protein-truncation-test\"> </a></td><td>Protein truncation test</td><td>Molecular technique detecting premature stop codons and truncated proteins.</td></tr><tr><td style=\"white-space:nowrap\">pyrosequencing<a name=\"genomicstudy-methodtype-pyrosequencing\"> </a></td><td>Pyrosequencing</td><td>DNA sequencing method based on detection of pyrophosphate release during nucleotide incorporation.</td></tr><tr><td style=\"white-space:nowrap\">q-banding<a name=\"genomicstudy-methodtype-q-banding\"> </a></td><td>Q-banding</td><td>Quinacrine staining chromosome banding technique using fluorescent dye.</td></tr><tr><td style=\"white-space:nowrap\">qpcr<a name=\"genomicstudy-methodtype-qpcr\"> </a></td><td>Quantitative PCR (qPCR)</td><td>Real-time PCR technique for quantifying DNA or RNA sequences.</td></tr><tr><td style=\"white-space:nowrap\">r-banding<a name=\"genomicstudy-methodtype-r-banding\"> </a></td><td>R-banding</td><td>Reverse chromosome banding technique visualizing reverse of normal G-banding pattern.</td></tr><tr><td style=\"white-space:nowrap\">rflp<a name=\"genomicstudy-methodtype-rflp\"> </a></td><td>RFLP</td><td>Restriction Fragment Length Polymorphism - technique detecting DNA variations via restriction mapping.</td></tr><tr><td style=\"white-space:nowrap\">rt-lamp<a name=\"genomicstudy-methodtype-rt-lamp\"> </a></td><td>RT-LAMP</td><td>Reverse transcription Loop-mediated Isothermal Amplification for RNA detection.</td></tr><tr><td style=\"white-space:nowrap\">rt-pcr<a name=\"genomicstudy-methodtype-rt-pcr\"> </a></td><td>RT-PCR</td><td>Reverse transcription PCR for detecting and amplifying RNA sequences.</td></tr><tr><td style=\"white-space:nowrap\">rt-pcr-with-gel-analysis<a name=\"genomicstudy-methodtype-rt-pcr-with-gel-analysis\"> </a></td><td>RT-PCR with gel analysis</td><td>RT-PCR product analysis using gel electrophoresis for visualization and sizing.</td></tr><tr><td style=\"white-space:nowrap\">rt-qpcr<a name=\"genomicstudy-methodtype-rt-qpcr\"> </a></td><td>RT-qPCR</td><td>Real-time reverse transcription PCR for quantitative RNA detection.</td></tr><tr><td style=\"white-space:nowrap\">snp-detection<a name=\"genomicstudy-methodtype-snp-detection\"> </a></td><td>SNP Detection</td><td>Detection of single nucleotide polymorphisms through molecular testing.</td></tr><tr><td style=\"white-space:nowrap\">silver-staining<a name=\"genomicstudy-methodtype-silver-staining\"> </a></td><td>Silver staining</td><td>Staining technique used in protein and DNA analysis for visualization.</td></tr><tr><td style=\"white-space:nowrap\">sky<a name=\"genomicstudy-methodtype-sky\"> </a></td><td>Spectral karyotyping (SKY)</td><td>Fluorescence in situ hybridization allowing simultaneous visualization of all chromosomes.</td></tr><tr><td style=\"white-space:nowrap\">t-banding<a name=\"genomicstudy-methodtype-t-banding\"> </a></td><td>T-banding</td><td>T-banding chromosome technique visualizing telomeres through staining.</td></tr><tr><td style=\"white-space:nowrap\">ms-ms<a name=\"genomicstudy-methodtype-ms-ms\"> </a></td><td>Tandem mass spectrometry (MS/MS)</td><td>Tandem mass spectrometry technique for analyzing molecular structure and mass.</td></tr><tr><td style=\"white-space:nowrap\">tetra-nucleotide-repeat-by-pcr-or-southern-blot<a name=\"genomicstudy-methodtype-tetra-nucleotide-repeat-by-pcr-or-southern-blot\"> </a></td><td>Tetra-nucleotide repeat by PCR or Southern Blot</td><td>Detection of tetra-nucleotide repeat expansions using PCR or Southern blot analysis.</td></tr><tr><td style=\"white-space:nowrap\">tiling-arrays<a name=\"genomicstudy-methodtype-tiling-arrays\"> </a></td><td>Tiling Arrays</td><td>Microarray technology using overlapping probes to analyze genomic regions.</td></tr><tr><td style=\"white-space:nowrap\">trinucleotide-repeat-by-pcr-or-southern-blot<a name=\"genomicstudy-methodtype-trinucleotide-repeat-by-pcr-or-southern-blot\"> </a></td><td>Trinucleotide repeat by PCR or Southern Blot</td><td>Detection of trinucleotide repeat expansions using PCR or Southern blot analysis.</td></tr><tr><td style=\"white-space:nowrap\">uni-directional-sanger-sequencing<a name=\"genomicstudy-methodtype-uni-directional-sanger-sequencing\"> </a></td><td>Uni-directional Sanger sequencing</td><td>One-directional Sanger sequencing method for DNA sequence determination.</td></tr></table></div>"
},
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{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
"valueCode" : "cg"
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{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status",
"valueCode" : "draft"
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{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm",
"valueInteger" : 1
}
],
"url" : "http://hl7.org/fhir/uv/cg-incubator/CodeSystem/genomicstudy-methodtype",
"identifier" : [
{
"system" : "urn:ietf:rfc:3986",
"value" : "urn:oid:2.16.840.1.113883.4.642.4.1979"
}
],
"version" : "0.1.0-ci-build",
"name" : "GenomicStudyMethodType",
"title" : "Genomic Study Method Type",
"status" : "draft",
"experimental" : true,
"date" : "2022-08-16T16:49:24-05:00",
"publisher" : "HL7 International / Clinical Genomics",
"contact" : [
{
"name" : "HL7 International / Clinical Genomics",
"telecom" : [
{
"system" : "url",
"value" : "http://www.hl7.org/Special/committees/clingenomics"
},
{
"system" : "email",
"value" : "clingenomics@lists.hl7.org"
}
]
}
],
"description" : "The method type of the GenomicStudy analysis. These method types and relevant codes were pulled from [National Library of Medicine-Genetic Testing Registry](https://www.ncbi.nlm.nih.gov/gtr/) (NCBI-GTR) values of describing different testing methods on various levels: [major method category](https://ftp.ncbi.nlm.nih.gov/pub/GTR/standard_terms/Major_method_category.txt), [method category](https://ftp.ncbi.nlm.nih.gov/pub/GTR/standard_terms/Method_category.txt), and [primary methodology](https://ftp.ncbi.nlm.nih.gov/pub/GTR/standard_terms/Primary_test_methodology.txt)",
"jurisdiction" : [
{
"coding" : [
{
"system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
"code" : "001",
"display" : "World"
}
]
}
],
"caseSensitive" : true,
"valueSet" : "http://hl7.org/fhir/uv/cg-incubator/ValueSet/genomicstudy-methodtype",
"content" : "complete",
"concept" : [
{
"code" : "biochemical-genetics",
"display" : "Biochemical Genetics",
"definition" : "Analysis of biochemical compounds and pathways to detect genetic metabolic disorders."
},
{
"code" : "cytogenetics",
"display" : "Cytogenetics",
"definition" : "Study of chromosome structure and number using microscopy-based methods."
},
{
"code" : "molecular-genetics",
"display" : "Molecular Genetics",
"definition" : "Analysis of DNA and genes using molecular techniques to identify variations and mutations."
},
{
"code" : "analyte",
"display" : "Analyte",
"definition" : "Analysis of biological analytes to detect genetic disorders."
},
{
"code" : "chromosome-breakage-studies",
"display" : "Chromosome breakage studies",
"definition" : "Tests to assess chromosome stability and fragility, often used to detect DNA repair disorders."
},
{
"code" : "deletion-duplication-analysis",
"display" : "Deletion/duplication analysis",
"definition" : "Detection of deletions and duplications in DNA sequences."
},
{
"code" : "detection-of-homozygosity",
"display" : "Detection of homozygosity",
"definition" : "Identification of homozygous regions in the genome."
},
{
"code" : "enzyme-assay",
"display" : "Enzyme assay",
"definition" : "Measurement of enzyme activity to detect genetic metabolic disorders."
},
{
"code" : "fish-interphase",
"display" : "FISH-interphase",
"definition" : "Fluorescence in situ hybridization performed during interphase of the cell cycle."
},
{
"code" : "fish-metaphase",
"display" : "FISH-metaphase",
"definition" : "Fluorescence in situ hybridization performed during metaphase of the cell cycle."
},
{
"code" : "flow-cytometry",
"display" : "Flow cytometry",
"definition" : "Analysis of cells using flow cytometry to assess genetic disorders."
},
{
"code" : "fish",
"display" : "Fluorescence in situ hybridization (FISH)",
"definition" : "Visualization of specific DNA sequences using fluorescent probes."
},
{
"code" : "immunohistochemistry",
"display" : "Immunohistochemistry",
"definition" : "Detection of antigens in tissue samples using antibodies."
},
{
"code" : "karyotyping",
"display" : "Karyotyping",
"definition" : "Visual analysis of chromosome structure and number in metaphase cells."
},
{
"code" : "linkage-analysis",
"display" : "Linkage analysis",
"definition" : "Analysis of genetic markers to identify disease-associated variants in families."
},
{
"code" : "methylation-analysis",
"display" : "Methylation analysis",
"definition" : "Detection of DNA methylation patterns to assess epigenetic modifications."
},
{
"code" : "msi",
"display" : "Microsatellite instability testing (MSI)",
"definition" : "Detection of microsatellite instability to assess DNA mismatch repair function."
},
{
"code" : "m-fish",
"display" : "Multicolor FISH (M-FISH)",
"definition" : "Multiple fluorescent in situ hybridization using multiple probes and colors simultaneously."
},
{
"code" : "mutation-scanning-of-select-exons",
"display" : "Mutation scanning of select exons",
"definition" : "Screening for mutations in specific exons of targeted genes."
},
{
"code" : "mutation-scanning-of-the-entire-coding-region",
"display" : "Mutation scanning of the entire coding region",
"definition" : "Comprehensive screening for mutations throughout the entire coding region of a gene."
},
{
"code" : "protein-analysis",
"display" : "Protein analysis",
"definition" : "Analysis of protein structure and function to detect genetic disorders affecting protein."
},
{
"code" : "protein-expression",
"display" : "Protein expression",
"definition" : "Measurement of protein expression levels to assess genetic effects on protein production."
},
{
"code" : "rna-analysis",
"display" : "RNA analysis",
"definition" : "Analysis of RNA sequences and expression to detect genetic disorders."
},
{
"code" : "sequence-analysis-of-select-exons",
"display" : "Sequence analysis of select exons",
"definition" : "DNA sequencing of specific exons to identify mutations."
},
{
"code" : "sequence-analysis-of-the-entire-coding-region",
"display" : "Sequence analysis of the entire coding region",
"definition" : "Comprehensive DNA sequencing of the entire coding region of a gene."
},
{
"code" : "sister-chromatid-exchange",
"display" : "Sister chromatid exchange",
"definition" : "Assessment of sister chromatid exchange as an indicator of DNA damage and repair."
},
{
"code" : "targeted-variant-analysis",
"display" : "Targeted variant analysis",
"definition" : "Sequencing or genotyping of specific, pre-selected genetic variants."
},
{
"code" : "udp",
"display" : "Uniparental disomy study (UPD)",
"definition" : "Detection of regions where both chromosomes are inherited from a single parent."
},
{
"code" : "aspe",
"display" : "Allele-specific primer extension (ASPE)",
"definition" : "Genotyping method using allele-specific primers to identify genetic variants."
},
{
"code" : "alternative-splicing-detection",
"display" : "Alternative splicing detection",
"definition" : "Detection and analysis of alternative splicing patterns in RNA."
},
{
"code" : "bi-directional-sanger-sequence-analysis",
"display" : "Bi-directional Sanger Sequence Analysis",
"definition" : "DNA sequencing using Sanger method in both forward and reverse directions."
},
{
"code" : "c-banding",
"display" : "C-banding",
"definition" : "Chromosome banding technique visualizing constitutive heterochromatin."
},
{
"code" : "cia",
"display" : "Chemiluminescent Immunoassay (CIA)",
"definition" : "Immunoassay detecting antigens using chemiluminescent reaction."
},
{
"code" : "chromatin-immunoprecipitation-on-chip",
"display" : "Chromatin Immunoprecipitation on ChIP",
"definition" : "ChIP-on-chip analysis combining chromatin immunoprecipitation with microarray."
},
{
"code" : "comparative-genomic-hybridization",
"display" : "Comparative Genomic Hybridization",
"definition" : "Detection of copy number variations by comparison of test and control DNA."
},
{
"code" : "damid",
"display" : "DamID",
"definition" : "DNA Adenine Methyltransferase Identification for mapping protein-DNA interactions."
},
{
"code" : "digital-virtual-karyotyping",
"display" : "Digital / Virtual karyotyping",
"definition" : "Computer-based analysis of chromosome patterns and abnormalities."
},
{
"code" : "digital-microfluidic-microspheres",
"display" : "Digital microfluidic microspheres",
"definition" : "Microfluidic technology using digital control for genetic analysis."
},
{
"code" : "enzymatic-levels",
"display" : "Enzymatic levels",
"definition" : "Measurement of enzyme levels in biological samples."
},
{
"code" : "enzyme-activity",
"display" : "Enzyme activity",
"definition" : "Measurement of enzyme activity levels in biological samples."
},
{
"code" : "elisa",
"display" : "Enzyme-Linked Immunosorbent Assays (ELISA)",
"definition" : "Immunoassay for detecting antigens using enzyme-linked antibodies."
},
{
"code" : "fluorometry",
"display" : "Fluorometry",
"definition" : "Measurement of fluorescence intensity to quantify biological molecules."
},
{
"code" : "fusion-genes-microarrays",
"display" : "Fusion genes microarrays",
"definition" : "Microarray-based detection of gene fusion events."
},
{
"code" : "g-banding",
"display" : "G-banding",
"definition" : "Giemsa staining chromosome banding technique visualizing chromosome structure."
},
{
"code" : "gc-ms",
"display" : "Gas chromatography mass spectrometry (GC-MS)",
"definition" : "Technique combining gas chromatography with mass spectrometry for chemical compound separation and identification."
},
{
"code" : "gene-expression-profiling",
"display" : "Gene expression profiling",
"definition" : "Analysis of gene expression patterns using various molecular techniques."
},
{
"code" : "gene-id",
"display" : "GeneID",
"definition" : "Identification of genes through sequence comparison or database lookup."
},
{
"code" : "gold-nanoparticle-probe-technology",
"display" : "Gold nanoparticle probe technology",
"definition" : "Molecular detection technique using gold nanoparticles as probes."
},
{
"code" : "hplc",
"display" : "High-performance liquid chromatography (HPLC)",
"definition" : "Separation and analysis technique using high-pressure liquid chromatography."
},
{
"code" : "lc-ms",
"display" : "Liquid chromatography mass spectrometry (LC-MS)",
"definition" : "Combined technique using liquid chromatography followed by mass spectrometry."
},
{
"code" : "lc-ms-ms",
"display" : "Liquid chromatography-tandem mass spectrometry (LC-MS/MS)",
"definition" : "Laboratory technique using liquid chromatography with tandem mass spectrometry."
},
{
"code" : "metabolite-levels",
"display" : "Metabolite levels",
"definition" : "Measurement of metabolite concentrations in biological samples."
},
{
"code" : "methylation-specific-pcr",
"display" : "Methylation-specific PCR",
"definition" : "PCR-based technique detecting DNA methylation patterns at specific loci."
},
{
"code" : "microarray",
"display" : "Microarray",
"definition" : "Molecular technique using arrays of probes to detect DNA sequences or expression levels."
},
{
"code" : "mlpa",
"display" : "Multiplex Ligation-dependent Probe Amplification (MLPA)",
"definition" : "Technique for detecting copy number variations and point mutations."
},
{
"code" : "ngs-mps",
"display" : "Next-Generation (NGS)/Massively parallel sequencing (MPS)",
"definition" : "High-throughput sequencing technology for analyzing genetic variation."
},
{
"code" : "ola",
"display" : "Oligonucleotide Ligation Assay (OLA)",
"definition" : "DNA sequence detection method using complementary oligonucleotide ligation."
},
{
"code" : "oligonucleotide-hybridization-based-dna-sequencing",
"display" : "Oligonucleotide hybridization-based DNA sequencing",
"definition" : "DNA sequencing using hybridization with oligonucleotide probes."
},
{
"code" : "other",
"display" : "Other",
"definition" : "Other genetic testing method not listed in this code system."
},
{
"code" : "pcr",
"display" : "PCR",
"definition" : "Polymerase Chain Reaction for amplifying and detecting DNA sequences."
},
{
"code" : "pcr-with-allele-specific-hybridization",
"display" : "PCR with allele specific hybridization",
"definition" : "PCR technique combined with allele-specific probe hybridization for variant detection."
},
{
"code" : "pcr-rflp-with-southern-hybridization",
"display" : "PCR-RFLP with Southern hybridization",
"definition" : "Combination of PCR-RFLP and Southern blot analysis for genetic variation detection."
},
{
"code" : "protein-truncation-test",
"display" : "Protein truncation test",
"definition" : "Molecular technique detecting premature stop codons and truncated proteins."
},
{
"code" : "pyrosequencing",
"display" : "Pyrosequencing",
"definition" : "DNA sequencing method based on detection of pyrophosphate release during nucleotide incorporation."
},
{
"code" : "q-banding",
"display" : "Q-banding",
"definition" : "Quinacrine staining chromosome banding technique using fluorescent dye."
},
{
"code" : "qpcr",
"display" : "Quantitative PCR (qPCR)",
"definition" : "Real-time PCR technique for quantifying DNA or RNA sequences."
},
{
"code" : "r-banding",
"display" : "R-banding",
"definition" : "Reverse chromosome banding technique visualizing reverse of normal G-banding pattern."
},
{
"code" : "rflp",
"display" : "RFLP",
"definition" : "Restriction Fragment Length Polymorphism - technique detecting DNA variations via restriction mapping."
},
{
"code" : "rt-lamp",
"display" : "RT-LAMP",
"definition" : "Reverse transcription Loop-mediated Isothermal Amplification for RNA detection."
},
{
"code" : "rt-pcr",
"display" : "RT-PCR",
"definition" : "Reverse transcription PCR for detecting and amplifying RNA sequences."
},
{
"code" : "rt-pcr-with-gel-analysis",
"display" : "RT-PCR with gel analysis",
"definition" : "RT-PCR product analysis using gel electrophoresis for visualization and sizing."
},
{
"code" : "rt-qpcr",
"display" : "RT-qPCR",
"definition" : "Real-time reverse transcription PCR for quantitative RNA detection."
},
{
"code" : "snp-detection",
"display" : "SNP Detection",
"definition" : "Detection of single nucleotide polymorphisms through molecular testing."
},
{
"code" : "silver-staining",
"display" : "Silver staining",
"definition" : "Staining technique used in protein and DNA analysis for visualization."
},
{
"code" : "sky",
"display" : "Spectral karyotyping (SKY)",
"definition" : "Fluorescence in situ hybridization allowing simultaneous visualization of all chromosomes."
},
{
"code" : "t-banding",
"display" : "T-banding",
"definition" : "T-banding chromosome technique visualizing telomeres through staining."
},
{
"code" : "ms-ms",
"display" : "Tandem mass spectrometry (MS/MS)",
"definition" : "Tandem mass spectrometry technique for analyzing molecular structure and mass."
},
{
"code" : "tetra-nucleotide-repeat-by-pcr-or-southern-blot",
"display" : "Tetra-nucleotide repeat by PCR or Southern Blot",
"definition" : "Detection of tetra-nucleotide repeat expansions using PCR or Southern blot analysis."
},
{
"code" : "tiling-arrays",
"display" : "Tiling Arrays",
"definition" : "Microarray technology using overlapping probes to analyze genomic regions."
},
{
"code" : "trinucleotide-repeat-by-pcr-or-southern-blot",
"display" : "Trinucleotide repeat by PCR or Southern Blot",
"definition" : "Detection of trinucleotide repeat expansions using PCR or Southern blot analysis."
},
{
"code" : "uni-directional-sanger-sequencing",
"display" : "Uni-directional Sanger sequencing",
"definition" : "One-directional Sanger sequencing method for DNA sequence determination."
}
]
}
IG © 2026+ HL7 International / Clinical Genomics.
Package hl7.fhir.uv.cg-incubator#0.1.0-ci-build based on FHIR 6.0.0-ballot3.
Generated
2026-03-24
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